Neurocutaneous disorders : phakomatoses and hamartoneoplastic syndromes
Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses
xxi, 1070 pages : illustrations, portraits
9783211213964, 3211213961
275861907
Embryology of Neurocutaneous Syndromes
Vascular Birthmarks of Infancy: Phace Association (Pascual-Castroviejo Type II Syndrome) and Cobb Syndrome
Neurofibromatosis type 1 & Related Disorders
Neurofibromatosis type 2 and related disorders
The Tuberous Sclerosis Complex
Von Hippel-Lindau Disease
Klippel-Tranaunay, Parkes Weber and Sturge-Weber Syndromes (Including Kasabach-Merrit Phenomena)
Klippel-Trenaunay Syndrome
Parkes Weber Syndrome
Sturge-Weber Syndrome
Osler-Weber-Rendu syndrome (Hereditary Hemorrhagic Telangiectasia)
Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)
Blue Rubber Bleb Nevus Syndrome (Brbns)
Wyburn-Mason Syndrome
Maffucci Syndrome
Hypomelanosis of Ito and Related Disorders (Pigmentary Mosaicism)
Phylloid Hypomelanosis
Incontinentia Pigmenti
Silver Hair Syndromes: Chediak-Higashi Syndrome (CHS) and Griscelli Syndromes (GS)
Leopard Syndrome
Nevus of OTA
Phacomatosis Pigmentokeratotica
Phakomatosis Pigmentovascularis
Speckled Lentiginous Nevus Syndrome
Cutis Tricolor (Ruggieri-Happle Syndrome)
Neurocutaneous Melanosis
Genetics of Pten Hamartoma Tumor Syndrome (PHTS)
Lhermitte-Duclos and Cowden Disease Complex
Bannayan-Riley-Ruvalcaba Syndrome
Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)
Proteus Syndrome
Epidermal Nevus Syndromes
Schimmelpenning-Feuerstein-Mims Syndrome (Nevus Sebaceous Syndrome)
Inflammatory Linear Verrucous Epidermal Nevus (Ilven)
Nevus Comedonicus Syndrome
Becker's Nevus Syndrome (Pigmentary Hairy Epidermal Nevus)
Child Syndrome
Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2)
SjÖgren-Larsson Syndrome
Kid Syndrome (Keratitis-Ichthyosis-Deafness)
Papillon-Lefèvre Syndrome (PLS)
Richner-Hanhart Syndrome (Tyrosine Transaminase Deficiency)
Darier's Disease
Dyskeratosis Congenita
Nevoid Basal Cell Carcinoma (Gorlin) Syndrome
Multiple Endocrine Neoplasia Type 2B
Turcot Syndrome
Degos' Disease (Malignant Atrophic Papulosis)
Ataxia-Telangiectasia
Nijmegen Breakage Syndrome
Xeroderma Pigmentosum
Cockayne Syndrome
Trichothiodystrophy
Progeria and Progeroid Syndromes (Premature Ageing Disorders)
Focal Dermal Hypoplasia Syndrome (Goltz Syndrome)
Ehlers-Danlos Syndromes
Lipoid proteinosis
Progressive facial hemiatrophy (parry-romberg syndrome)
Linear scleroderma (morphoea) "en coup de sabre"
Unilateral Somatic and Intracranial Hypoplasia
Oculocerebrocutaneous Syndrome (Delleman Syndrome)
Cerebello-Trigeminal Dermal Dysplasia (Gomez-Lopez-Hernandez Syndrome)
Macrodactyly-Lipofibromatous Hamartoma of Nerves
Chime Syndrome (Zunich Syndrome)
Hypohidrotic Ectodermal Dysplasia (HED)
Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway
Anderson-Fabry Disease
Cerebrotendinous Xanthomatosis
Giant Axonal Neuropathy
Lesch-Nyhan Syndrome
The Skin as a Clue for the Diagnosis of Inherited Metabolic Disorders
Skin Involvement as a Clinical Marker of Neuromuscular Disorders